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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID 		Edn3+
wild type
MGI:2152786
Summary 2 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
ht1
 		Edn3tmgc48/Edn3+ C57BL/6-19PWK MGI:3802920
ht2
 		Edn3ls/Edn3+ involves: C57BL MGI:3589172


Genotype
MGI:3802920
ht1
Allelic
Composition		 Edn3tmgc48/Edn3+
Genetic
Background		 C57BL/6-19PWK
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Edn3tmgc48 mutation (0 available); any Edn3 mutation (23 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
pigmentation
variable body spotting ( J:137432 )
• heritable white spotting phenotype
• variable white belly spotting

integument
variable body spotting ( J:137432 )
• heritable white spotting phenotype
• variable white belly spotting

Mouse Models of Human Disease
 DO ID OMIM ID(s) Ref(s)
Waardenburg syndrome type 4B DOID:0110954 OMIM:613265
 J:137432




Genotype
MGI:3589172
ht2
Allelic
Composition		 Edn3ls/Edn3+
Genetic
Background		 involves: C57BL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Edn3ls mutation (3 available); any Edn3 mutation (23 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
pigmentation
abnormal melanosome morphology ( J:12724 )
• reduced number of melanosomes in leg musculature, the Harderian gland, ankle skin and choroid layer, however melanocyte content in hair follicles and membranous labyrinth of the ear is normal




Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
03/18/2025
MGI 6.24 		The Jackson Laboratory